A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

Article, Other literature type English OPEN
Rivera, Andrea; White, Karen; Stöhr, Heidi; Steiner, Klaus; Hemmrich, Nadine; Grimm, Timo; Jurklies, Bernhard; Lorenz, Birgit; Scholl, Hendrik P.N.; Apfelstedt-Sylla, Eckhart; Weber, Bernhard H.F.;
  • Publisher: Elsevier BV
  • Journal: The American Journal of Human Genetics,volume 67,issue 4,pages800-813 (issn: 0002-9297)
  • Related identifiers: pmc: PMC1287885, doi: 10.1086/303090
  • Subject: Genetics(clinical) | Genetics | Articles

Stargardt disease (STGD) is a common autosomal recessive maculopathy of early and young-adult onset and is caused by alterations in the gene encoding the photoreceptor-specific ATP-binding cassette (ABC) transporter (ABCA4). We have studied 144 patients with STGD and 22... View more
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